Cerebral vascular malformations
Gene: HBB

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

CVM is not a common feature of this condition. It has been reported before in individuals however no genetic testing was conducted to confirm the presence of a pathogenic variant in HBB associated with CVM/CM-AVM.
Created: 19 Nov 2024, 1:13 a.m. | Last Modified: 19 Nov 2024, 1:13 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sickle cell anemia MONDO:0011382

Publications

27301940

Created: 19 Nov 2024, 1:13 a.m.
Last Modified: 19 Nov 2024, 1:13 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Amber

Phenotypes

Sickle cell anemia 603903

OMIM

141900

Clinvar variants

Variants in HBB

Penetrance

None

Publications

20301551

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBB was added gene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBB were set to 20301551 Phenotypes for gene: HBB were set to Sickle cell anemia 603903

Cerebral vascular malformations Gene: HBB